MRAS p.Gln80=
c.240A>G · VCV3692255
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.47e-05%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.3 | GERP -0.9, phastCons 1 |
| Overall | ||
| CADD | 11.59 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.47e-05%
European (non-Finnish) · 1/1,179,992 alleles
Overall
6.2e-05%
1/1,614,118 alleles · very rare
exomes 1/1,461,836 · genomes 0/152,282 · joint denominator
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- MRAS
- Protein
- p.Gln80=
- Coding
- c.240A>G
- MANE Select
- NM_001085049
- Type
- single nucleotide variant
- Location
- chr3:138397370 (GRCh38)
- Gene constraint
- LOEUF 0.444 · pLI 0.99 (gnomAD)
- Structure
- AlphaFold pLDDT 86.61 · 11 PDB
- Residue 80
- an α-helix
Similar variants
- MRAS p.Gln71Arg Likely pathogenic ★★★ same type
- MRAS p.Gly23Arg Likely pathogenic ★★★ same type
- MRAS p.Gly23Val Likely pathogenic ★★★ same type
- MRAS p.Thr68Ile Likely pathogenic ★★★ same type
- MRAS p.Gln59= Benign ★★★ same type
- MRAS p.Pro151= Benign ★★★ same type
- MRAS p.Ala167Gly Uncertain significance ★★ ⚠ same type
- MRAS p.Ala5Thr Uncertain significance ★★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/mras-p-gln80 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown